Nature Methods · 2014 · 235 citations · 33 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingExosome AnalysisGenotyping PlatformsVariant DetectionExome SequencingExome Sequencing AnalysisGenomic Amplification DetectionIndel DetectionIndel Realignment
33
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Fast gapped-read alignment with Bowtie 2
Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations
Fast and accurate long-read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text